X-linked myotubular myopathy in a family of two infant siblings: A case report and review
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy....
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| Format: | Article |
| Language: | English |
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Elsevier
2024-11-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S187595722400113X |
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| author | Amelia Suan-Lin Koe Yee Yin Tan Shrenik Vora |
| author_facet | Amelia Suan-Lin Koe Yee Yin Tan Shrenik Vora |
| author_sort | Amelia Suan-Lin Koe |
| collection | DOAJ |
| description | X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period. |
| format | Article |
| id | doaj-art-3e30bc797c054077827e1d1eac84e27c |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-3e30bc797c054077827e1d1eac84e27c2025-08-20T01:56:25ZengElsevierPediatrics and Neonatology1875-95722024-11-0165652753110.1016/j.pedneo.2024.02.009X-linked myotubular myopathy in a family of two infant siblings: A case report and reviewAmelia Suan-Lin Koe0Yee Yin Tan1Shrenik Vora2Corresponding author.; Department of Neonatology, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899Department of Neonatology, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899Department of Neonatology, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.http://www.sciencedirect.com/science/article/pii/S187595722400113XHypotoniaNeurodevelopmental disorderX-linked myotubular myopathy |
| spellingShingle | Amelia Suan-Lin Koe Yee Yin Tan Shrenik Vora X-linked myotubular myopathy in a family of two infant siblings: A case report and review Pediatrics and Neonatology Hypotonia Neurodevelopmental disorder X-linked myotubular myopathy |
| title | X-linked myotubular myopathy in a family of two infant siblings: A case report and review |
| title_full | X-linked myotubular myopathy in a family of two infant siblings: A case report and review |
| title_fullStr | X-linked myotubular myopathy in a family of two infant siblings: A case report and review |
| title_full_unstemmed | X-linked myotubular myopathy in a family of two infant siblings: A case report and review |
| title_short | X-linked myotubular myopathy in a family of two infant siblings: A case report and review |
| title_sort | x linked myotubular myopathy in a family of two infant siblings a case report and review |
| topic | Hypotonia Neurodevelopmental disorder X-linked myotubular myopathy |
| url | http://www.sciencedirect.com/science/article/pii/S187595722400113X |
| work_keys_str_mv | AT ameliasuanlinkoe xlinkedmyotubularmyopathyinafamilyoftwoinfantsiblingsacasereportandreview AT yeeyintan xlinkedmyotubularmyopathyinafamilyoftwoinfantsiblingsacasereportandreview AT shrenikvora xlinkedmyotubularmyopathyinafamilyoftwoinfantsiblingsacasereportandreview |